{"id":"W4408866610","doi":"10.1038/s41586-025-08676-x","title":"The contribution of de novo coding mutations to meningomyelocele","year":2025,"lang":"en","type":"article","venue":"Nature","topic":"Congenital Diaphragmatic Hernia Studies","field":"Medicine","cited_by":13,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; National Heart, Lung, and Blood Institute; National Institutes of Health; U.S. Department of Veterans Affairs","keywords":"Genetics; Biology; Computational biology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003386259,0.00030416,0.0001582946,0.001622301,0.0004052627,0.0005016132,0.0004719401,0.0009689351,0.003187611],"category_scores_gemma":[0.004629533,0.0001760925,0.0001737402,0.0005488819,0.0005668292,0.0004858537,0.0002873158,0.0004935106,0.0002944713],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003006582,"about_ca_system_score_gemma":0.0003434571,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001633299,"about_ca_topic_score_gemma":0.001125039,"domain_scores_codex":[0.9997589,0.00004581421,0.00003574404,0.00004138377,0.00005828738,0.000059901],"domain_scores_gemma":[0.9973838,0.001688983,0.0002880482,0.0001760048,0.0002151176,0.0002480792],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0005298306,0.0001192192,0.4589767,0.0001185252,0.0000634448,0.4671471,0.0005603768,0.0007585702,0.04364217,0.003432783,0.0008928378,0.02375836],"study_design_scores_gemma":[0.00002825306,0.0002465643,0.3046151,0.00008405455,0.000124123,0.6635822,0.0006479769,0.001783294,0.02003026,0.002036497,0.006791391,0.00003027959],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9867569,0.001862776,0.0008060012,0.0005502049,0.00009239432,0.000009941295,0.0002056581,0.00002118333,0.009694973],"genre_scores_gemma":[0.9985999,0.0004851628,0.0002913179,0.00007175468,0.00006571411,0.000001526494,0.00004887297,0.000008787748,0.0004268509],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003187611,"threshold_uncertainty_score":0.01066357,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005803193068358854,"score_gpt":0.3090837283269339,"score_spread":0.3032805352585751,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}